V52L (p.Val52Leu) variant of PRKCH (Protein kinase C eta type)
V52L (p.Val52Leu) in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
V52L (p.Val52Leu) variant details
- p.Val52Leu
- ESP rs148375974
- ExAC rs148375974
- TOPMed rs148375974
- gnomAD rs148375974
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.13
- MetaLR 0.18
- MetaSVM -0.91
- CADD 21.60
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available